R241Q (p.Arg241Gln) variant of GCH1 (GTP cyclohydrolase 1)
R241Q (p.Arg241Gln) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GTP cyclohydrolase I deficiency; Dystonia 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R241Q (p.Arg241Gln) variant details
- p.Arg241Gln
- rs775733967
- ClinGen CA7193506
- cosmic curated COSV54301
- ClinVar RCV003062633
- Conflicting interpretations
- GTP cyclohydrolase I deficiency; Dystonia 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.97
- CADD 29.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Dystonia 5; GTP cyclohydrolase I deficiency; not provided)
- EBI: Likely pathogenic (in DRD)
- UniProt: Likely pathogenic (in DRD)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)